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Beta-Showa-Yakushiji thalassemia

MedGen UID:
865959
•Concept ID:
C4017522
•
Finding
Synonym: BETA-SHOWA-YAKUSHIJI THALASSEMIA
 
OMIM®: 141900

Professional guidelines

PubMed

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, Beck BB, Boyer O, Cerkauskiene R, Ferraro PM, Groen LA, Gupta A, Knebelmann B, Mandrile G, Moochhala SS, Prytula A, Putnik J, Rumsby G, Soliman NA, Somani B, Bacchetta J
Nat Rev Nephrol 2023 Mar;19(3):194-211. Epub 2023 Jan 5 doi: 10.1038/s41581-022-00661-1. PMID: 36604599
Clinical Classification, Screening and Diagnosis for Thalassemia.
Viprakasit V, Ekwattanakit S
Hematol Oncol Clin North Am 2018 Apr;32(2):193-211. doi: 10.1016/j.hoc.2017.11.006. PMID: 29458726
Microcytic anemia. Differential diagnosis and management of iron deficiency anemia.
Massey AC
Med Clin North Am 1992 May;76(3):549-66. doi: 10.1016/s0025-7125(16)30339-x. PMID: 1578956

Recent clinical studies

Etiology

Thalassaemia-A global view.
Hokland P, Daar S, Khair W, Sheth S, Taher AT, Torti L, Hantaweepant C, Rund D
Br J Haematol 2023 Apr;201(2):199-214. Epub 2023 Feb 17 doi: 10.1111/bjh.18671. PMID: 36799486
Thalassaemia.
Kattamis A, Kwiatkowski JL, Aydinok Y
Lancet 2022 Jun 18;399(10343):2310-2324. Epub 2022 Jun 9 doi: 10.1016/S0140-6736(22)00536-0. PMID: 35691301
Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia.
Mensah C, Sheth S
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):607-613. doi: 10.1182/hematology.2021000296. PMID: 34889395Free PMC Article
Beta-thalassemia.
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Diagnosis

Thalassaemia-A global view.
Hokland P, Daar S, Khair W, Sheth S, Taher AT, Torti L, Hantaweepant C, Rund D
Br J Haematol 2023 Apr;201(2):199-214. Epub 2023 Feb 17 doi: 10.1111/bjh.18671. PMID: 36799486
Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia.
Mensah C, Sheth S
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):607-613. doi: 10.1182/hematology.2021000296. PMID: 34889395Free PMC Article
Clinical Classification, Screening and Diagnosis for Thalassemia.
Viprakasit V, Ekwattanakit S
Hematol Oncol Clin North Am 2018 Apr;32(2):193-211. doi: 10.1016/j.hoc.2017.11.006. PMID: 29458726
The α-thalassemias.
Piel FB, Weatherall DJ
N Engl J Med 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415. PMID: 25390741
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Therapy

Thalassaemia in China.
Wang WD, Hu F, Zhou DH, Gale RP, Lai YR, Yao HX, Li C, Wu BY, Chen Z, Fang JP, Chen SJ, Liang Y
Blood Rev 2023 Jul;60:101074. Epub 2023 Mar 17 doi: 10.1016/j.blre.2023.101074. PMID: 36963988
β-Thalassemias.
Taher AT, Musallam KM, Cappellini MD
N Engl J Med 2021 Feb 25;384(8):727-743. doi: 10.1056/NEJMra2021838. PMID: 33626255
Emerging Therapies.
Guerra A, Musallam KM, Taher AT, Rivella S
Hematol Oncol Clin North Am 2018 Apr;32(2):343-352. Epub 2017 Dec 15 doi: 10.1016/j.hoc.2017.11.002. PMID: 29458736Free PMC Article
Hematopoietic Stem Cell Transplantation in Thalassemia.
Strocchio L, Locatelli F
Hematol Oncol Clin North Am 2018 Apr;32(2):317-328. doi: 10.1016/j.hoc.2017.11.011. PMID: 29458734
Deferiprone.
Piga A, Roggero S, Salussolia I, Massano D, Serra M, Longo F
Ann N Y Acad Sci 2010 Aug;1202:75-8. doi: 10.1111/j.1749-6632.2010.05586.x. PMID: 20712776

Prognosis

Current status of beta-thalassemia and its treatment strategies.
Ali S, Mumtaz S, Shakir HA, Khan M, Tahir HM, Mumtaz S, Mughal TA, Hassan A, Kazmi SAR, Sadia, Irfan M, Khan MA
Mol Genet Genomic Med 2021 Dec;9(12):e1788. Epub 2021 Nov 5 doi: 10.1002/mgg3.1788. PMID: 34738740Free PMC Article
Thalassemia, a human blood disorder.
Shafique F, Ali S, Almansouri T, Van Eeden F, Shafi N, Khalid M, Khawaja S, Andleeb S, Hassan MU
Braz J Biol 2021;83:e246062. Epub 2021 Sep 3 doi: 10.1590/1519-6984.246062. PMID: 34495151
Changing patterns in the epidemiology of β-thalassemia.
Kattamis A, Forni GL, Aydinok Y, Viprakasit V
Eur J Haematol 2020 Dec;105(6):692-703. Epub 2020 Sep 21 doi: 10.1111/ejh.13512. PMID: 32886826Free PMC Article
How I treat thalassemia.
Rachmilewitz EA, Giardina PJ
Blood 2011 Sep 29;118(13):3479-88. Epub 2011 Aug 2 doi: 10.1182/blood-2010-08-300335. PMID: 21813448
Beta-thalassemia.
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article

Clinical prediction guides

Benefits and Risks in Polypathology and Polypharmacotherapy Challenges in the Era of the Transition of Thalassaemia from a Fatal to a Chronic or Curable Disease.
Kolnagou A, Kleanthous M, Kontoghiorghes GJ
Front Biosci (Elite Ed) 2022 Jul 12;14(3):18. doi: 10.31083/j.fbe1403018. PMID: 36137990
Laboratory diagnosis of thalassemia.
Brancaleoni V, Di Pierro E, Motta I, Cappellini MD
Int J Lab Hematol 2016 May;38 Suppl 1:32-40. Epub 2016 May 16 doi: 10.1111/ijlh.12527. PMID: 27183541
Alpha-thalassaemia.
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article
Thalassaemia: clinical management.
Olivieri N
Baillieres Clin Haematol 1998 Mar;11(1):147-62. doi: 10.1016/s0950-3536(98)80073-5. PMID: 10872476
Beta-thalassaemia.
Thein SL
Baillieres Clin Haematol 1998 Mar;11(1):91-126. doi: 10.1016/s0950-3536(98)80071-1. PMID: 10872474

Recent systematic reviews

Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
Mirror syndrome: a systematic literature review.
Biswas S, Gomez J, Horgan R, Sibai BM, Saad A, Powel JE, Al-Kouatly HB
Am J Obstet Gynecol MFM 2023 Sep;5(9):101067. Epub 2023 Jun 28 doi: 10.1016/j.ajogmf.2023.101067. PMID: 37385374
Hemolytic disease of the fetus and newborn: systematic literature review of the antenatal landscape.
de Winter DP, Kaminski A, Tjoa ML, Oepkes D
BMC Pregnancy Childbirth 2023 Jan 7;23(1):12. doi: 10.1186/s12884-022-05329-z. PMID: 36611144Free PMC Article
Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883
Extramedullary hemopoiesis.
Orphanidou-Vlachou E, Tziakouri-Shiakalli C, Georgiades CS
Semin Ultrasound CT MR 2014 Jun;35(3):255-62. Epub 2013 Dec 19 doi: 10.1053/j.sult.2013.12.001. PMID: 24929265

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